1. Gene
  2. CEACAM16 - CEA cell adhesion molecule 16, tectorial membrane component Gene

CEACAM16 - CEA cell adhesion molecule 16, tectorial membrane component Gene

中文名称:CEA 细胞粘附分子 16,盖膜成分

种属: Homo sapiens

同用名: CEAL2; DFNA4B; DFNB113

基因 ID: 388551 | 基因类型: protein coding

关于 CEACAM16

Cytogenetic location: 19q13.31-q13.32 Genomic coordinates (GRCh38): 19:44,699,151-44,710,718 (from NCBI)

This gene has 2 transcripts (splice variants), 495 orthologues, 24 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质是一种分泌型糖蛋白,在小鼠体内与内耳的盖膜蛋白相互作用。编码的粘附蛋白存在于耳蜗外毛细胞中,似乎对扩展频率范围内的正常听力很重要。该基因的缺陷可能是非综合征性常染色体显性遗传性听力损失的原因。[RefSeq 提供,2012 年 5 月]

The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]

CEACAM16 基因产物(1)

mRNA Protein Name
NM_001039213.4 NP_001034302.2 carcinoembryonic antigen-related cell adhesion molecule 16 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IDA
IDA: 通过直接分析推断
25589040 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within sensory perception of sound IMP
IMP: 通过突变表型推断
21368133 GOA
involved in sensory perception of sound IMP
IMP: 通过突变表型推断
25589040 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
25589040 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CEACAM16 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (32 - 118)

Ig_2

Ig_2: Immunoglobulin domain (141 - 219)

Ig_2

Ig_2: Immunoglobulin domain (245 - 302)

V-set

V-set: Immunoglobulin V-set domain (329 - 421)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 425 a.a.
蛋白主名 其他名称

carcinoembryonic antigen-related cell adhesion molecule 16

carcinoembryonic antigen like-2 protein

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 4b

DFNA4B

Autosomal Dominant Nonsyndromic Deafness 4b

Autosomal Dominant Deafness 4b

Deafness, Autosomal Dominant, 4b

Deafness, Autosomal Dominant, Type 4b

Deafness, Autosomal Recessive 113

DFNB113

Autosomal Recessive Nonsyndromic Deafness 113

Autosomal Recessive Deafness 113

Deafness, Autosomal Recessive, 113

Non-Syndromic Genetic Deafness

Nonsyndromic Genetic Hearing Loss

Isolated Genetic Deafness

Isolated Genetic Hearing Loss

Non-Syndromic Genetic Hearing Loss

Nonsyndromic Hearing Loss

Nonsyndromic Deafness

Nonsyndromic Hearing Impairment

Nonsyndromic Hearing Loss And Deafness

Deafness, Nonsyndromic

Isolated Deafness

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Ear Malformation

Cup Ear

Deafness, Autosomal Dominant 64

DFNA64

Autosomal Dominant Nonsyndromic Deafness 64

Autosomal Dominant Deafness 64

Deafness, Autosomal Dominant, 64

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 64

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 64

Deafness, Autosomal Dominant, Type 64

Deafness, Autosomal Recessive 79

DFNB79

Autosomal Recessive Nonsyndromic Deafness 79

Autosomal Recessive Deafness 79

Deafness, Autosomal Recessive, 79

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79

Deafness, Autosomal Recessive, Type 79

Deafness, Autosomal Dominant 58

DFNA58

Autosomal Dominant Nonsyndromic Deafness 58

Autosomal Dominant Deafness 58

Deafness, Autosomal Dominant 3a

DFNA3A

Autosomal Dominant Nonsyndromic Deafness 3a

Autosomal Dominant Deafness 3a

Deafness, Autosomal Dominant, 3a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a

Deafness, Autosomal Dominant, Type 3a

Deafness, Autosomal Dominant 2a

DFNA2A

Autosomal Dominant Nonsyndromic Deafness 2a

Autosomal Dominant Deafness 2a

Deafness, Autosomal Dominant, 2a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a

Deafness, Autosomal Dominant, Type 2a

Deafness, Autosomal Recessive 22

DFNB22

Autosomal Recessive Nonsyndromic Deafness 22

Autosomal Recessive Deafness 22

Deafness, Autosomal Recessive, 22

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 22

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 22

Deafness, Autosomal Recessive 61

DFNB61

Autosomal Recessive Nonsyndromic Deafness 61

Autosomal Recessive Deafness 61

Deafness, Autosomal Recessive, 61

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61

Deafness, Autosomal Recessive, Type 61

Rare Genetic Deafness

Rare Genetic Hearing Loss

Deafness, Autosomal Recessive 84b

DFNB84B

Autosomal Recessive Nonsyndromic Deafness 84b

Autosomal Recessive Deafness 84b

Deafness, Autosomal Recessive, 84b

Deafness, Autosomal Recessive, Type 84b

Deafness, Autosomal Dominant 3b

DFNA3B

Autosomal Dominant Nonsyndromic Deafness 3b

Autosomal Dominant Deafness 3b

Deafness, Autosomal Dominant, 3b

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b

Deafness, Autosomal Dominant, Type 3b

Deafness, Autosomal Recessive 21

DFNB21

Autosomal Recessive Nonsyndromic Deafness 21

Autosomal Recessive Deafness 21

Deafness, Autosomal Recessive, 21

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21

Deafness, Autosomal Recessive, Type 21

Deafness, Autosomal Recessive 18b

DFNB18B

Autosomal Recessive Nonsyndromic Deafness 18b

Autosomal Recessive Deafness 18b

Deafness, Autosomal Recessive, 18b

Deafness, Autosomal Recessive, Type 18b

Usher Syndrome, Type Ic

USH1C

Usher Syndrome Type 1c

Usher Syndrome, Type 1c

Usher Syndrome Type I Acadian Variety

Usher Syndrome Type Ic

Usher Syndrome, Type I, Acadian Variety

Usher Syndrome 1c

Acadian Usher Syndrome

Usher'S Syndrome Type 1c

Deafness, Autosomal Recessive 28

DFNB28

Autosomal Recessive Nonsyndromic Deafness 28

Autosomal Recessive Deafness 28

Deafness, Autosomal Recessive, 28

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28

Deafness, Autosomal Recessive, Type 28

Deafness, Autosomal Recessive 42

DFNB42

Autosomal Recessive Nonsyndromic Deafness 42

Autosomal Recessive Deafness 42

Deafness, Autosomal Recessive, 42

Congenital Neurosensory Deafness Autosomal Recessive 42

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42

Deafness, Autosomal Recessive, Type 42

Deafness, Autosomal Recessive 1b

DFNB1B

Autosomal Recessive Nonsyndromic Deafness 1b

Autosomal Recessive Deafness 1b

Deafness, Autosomal Recessive, 1b

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1b

Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant

Weissenbacher-Zweymuller Syndrome

Wzs

Pierre Robin Syndrome With Fetal Chondrodysplasia

OSMEDA

Weissenbacher-Zweymüller Syndrome

Heterozygous Osmed

Stickler Syndrome, Type 3

Osmed, Heterozygous

Pierre Robin Syndrome With Fetal Chondrodysplasia Stickler Syndrome, Nonocular Type, Formerly

Stickler Syndrome, Type Iii, Formerly

Stl3, Formerly

Piere-Robin Syndrome

Pierre Robin Malformation

Heterozygous Otospondylomegaepiphyseal Dysplasia

Autosomal Dominant Otospondylomegaepiphyseal Dysplasia

Ad Osmed

Stickler Syndrome Type 3

Stickler Syndrome, Non-Ocular Type

Stickler-Like Syndrome

Stickler Syndrome 3

Stickler Syndrome Non-Ocular Type

Stickler Syndrome Type Iii

Stl3

Weissenbacher-Zweymueller Syndrome

Stickler Syndrome, Type Iii

Pierre Robin Syndrome

Dysplasia, Otospondylomegaepiphyseal, Autosomal Dominant

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CEACAM16 VGNC VGNC:108495
Bos taurus CEACAM16 VGNC VGNC:27161
Mus musculus CEACAM16 MGD MGI:2685615
Rattus norvegicus CEACAM16 RGD RGD:1306386
Canis familiaris CEACAM16 VGNC VGNC:39087