1. Gene
  2. CRISPLD2 - cysteine rich secretory protein LCCL domain containing 2 Gene

CRISPLD2 - cysteine rich secretory protein LCCL domain containing 2 Gene

中文名称:含富半胱氨酸的分泌蛋白 LCCL 结构域 2

种属: Homo sapiens

同用名: LGL1; CRISP11; LCRISP2

基因 ID: 83716 | 基因类型: protein coding

关于 CRISPLD2

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:84,819,985-84,909,508 (from NCBI)

This gene has 11 transcripts (splice variants), 254 orthologues and 13 paralogues. Broad expression in gall bladder (RPKM 67.9), placenta (RPKM 54.3) and 20 other tissues.

功能概要

预测启用糖胺聚糖结合活性。参与面部形态发生。位于运输囊泡中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable glycosaminoglycan binding activity. Involved in face morphogenesis. Located in transport vesicle. [provided by Alliance of Genome Resources, Apr 2022]

CRISPLD2 基因产物(1)

mRNA Protein Name
NM_031476.4 NP_113664.1 cysteine-rich secretory protein LCCL domain-containing 2 precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in face morphogenesis IMP
IMP: 通过突变表型推断
21254358 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

CRISPLD2 蛋白结构

CAP

CAP: Cysteine-rich secretory protein family (62 - 200)

LCCL

LCCL: LCCL domain (288 - 379)

LCCL

LCCL: LCCL domain (389 - 483)

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

cysteine-rich secretory protein LCCL domain-containing 2

CRISP-11

关联疾病

疾病名称 别名
Arthrogryposis, Distal, Type 6

Distal Arthrogryposis Type 6

DA6

Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome

Arthrogryposis And Sensorineural Deafness

Familial Hand Abnormality And Sensori-Neural Deafness

Arthrogryposis-Like Hand Anomaly And Sensorineural Deafness

Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss Syndrome

Cleft Lip

Cheiloschisis

Labium Leporinum

Cleft Lip, Unilateral, Complete

Complete Unilateral Cleft Lip

Hare Lip

Congenital Fissure Of Lip

Isolated Cleft Lip

Cleft Lip Without Cleft Palate

Cleft Lip Without Cleft Palate, Unilateral

Isolated Cleft Lip, Unilateral

Cleft Lip Without Cleft Palate, Bilateral

Isolated Cleft Lip, Bilateral

Orofacial Cleft 15

OFC15

Non-Syndromic Orofacial Cleft 15

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Van Der Woude Syndrome

Lip-Pit Syndrome

Vws

Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

Vdws

Lps

Lip Pit Syndrome

Cleft Lip/Palate With Mucous Cysts Of Lower Lip

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Orofacial Cleft

Cleft, Orofacial

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
Rattus norvegicus CRISPLD2 RGD RGD:620860
Canis familiaris CRISPLD2 VGNC VGNC:39618
Bos taurus CRISPLD2 VGNC VGNC:27715
Mus musculus CRISPLD2 MGD MGI:1926142
Macaca mulatta CRISPLD2 VGNC VGNC:81379
Felis catus CRISPLD2 VGNC VGNC:97389